Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MAS1L	116511	broad.mit.edu	37	6	29454818	29454818	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:29454818C>G	ENST00000377127.3	-	1	920	c.862G>C	c.(862-864)Gat>Cat	p.D288H		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	288			D -> E (in dbSNP:rs17184100).			cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ATTTTGAAATCTGTTATGAGG	0.507000													3	36					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43004913	43004913	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:43004913G>C	ENST00000428554.2	+	10	1330	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	CCDC30_ENST00000342022.4_Missense_Mutation_p.E63Q|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000340612.4_Missense_Mutation_p.E63Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	63										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGGGGAATCAGAAAGCAAAGA	0.318000													5	60					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70502235	70502235	+	Silent	SNP	C	C	G	rs138112690		TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr2:70502235C>G	ENST00000433351.2	+	4	667	c.639C>G	c.(637-639)ctC>ctG	p.L213L	PCYOX1_ENST00000264441.5_Silent_p.L213L|PCYOX1_ENST00000505044.2_Silent_p.L136L|PCYOX1_ENST00000545138.1_Silent_p.L135L	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	213					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						AGAAGTTCCTCAATGAAATGA	0.433000													4	206					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10169268	10169268	+	RNA	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr19:10169268G>C	ENST00000495140.1	+	0	1820																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CTCCGAGGAGGATGTATCCCT	0.547000													15	59					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145508206	145508206	+	Splice_Site	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:145508206G>C	ENST00000330165.8	+	3	196		c.e3-1		RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RBM8A_ENST00000369307.3_Intron	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCCTTATAGAAGAGGGGTC	0.542000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	66					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977483	107977483	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chrX:107977483C>T	ENST00000372129.2	-	1	2168	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	698	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ACGTATGGGTCATCCTCATCT	0.498000													24	84					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36744756	36744756	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr13:36744756G>A	ENST00000379881.3	-	10	1257	c.1169C>T	c.(1168-1170)cCt>cTt	p.P390L	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.P467L|SOHLH2_ENST00000554962.1_Missense_Mutation_p.P467L	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CATGGCTGAAGGTAAATGAAT	0.473000													5	79					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956467	16956467	+	RNA	SNP	A	A	T	rs1762950	by1000genomes	TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:16956467A>T	ENST00000412962.1	-	0	294																											gcaattttttaaatttttagt	0.567000													4	13					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26013003	26013003	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:26013003G>C	ENST00000374332.4	+	2	943	c.613G>C	c.(613-615)Gat>Cat	p.D205H	MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000263979.3_Missense_Mutation_p.D25H	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	205					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACTAACAAAAGATGGCTACGA	0.478000													7	88					0	0	1	0	0
LCOR	84458	broad.mit.edu	37	10	98715188	98715188	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr10:98715188G>A	ENST00000540664.1	+	8	1354	c.811G>A	c.(811-813)Gat>Aat	p.D271N	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.D271N|LCOR_ENST00000371097.4_Missense_Mutation_p.D271N|LCOR_ENST00000356016.3_Missense_Mutation_p.D271N	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TCGCACTGGTGATCAGTACAG	0.398000													14	92					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120906785	120906785	+	Silent	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr7:120906785C>T	ENST00000310396.5	+	20	3023	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AGAATACTGGCCAGACTGTAT	0.388000													5	98					0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817438	38817438	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr19:38817438G>A	ENST00000263372.3	+	2	635	c.528G>A	c.(526-528)ctG>ctA	p.L176L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	176						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	TGGTGGCCCTGTTGGGGGTCG	0.632000													27	96					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262975	140262975	+	Silent	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr5:140262975G>T	ENST00000289272.2	+	1	1122	c.1122G>T	c.(1120-1122)gtG>gtT	p.V374V	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.V374V|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATCAGTGTGTCCGATCGTG	0.498000													5	126					3.59834e-05	3.92058e-05	1	1	0
TYK2	7297	broad.mit.edu	37	19	10476531	10476531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr19:10476531G>A	ENST00000525621.1	-	7	1154	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	TYK2_ENST00000529370.1_Nonsense_Mutation_p.Q225*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.Q225*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.Q40*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	225	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCGCTGTGCTGCCGGATATGC	0.667000													7	17					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49814262	49814262	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:49814262C>G	ENST00000335847.4	-	5	507	c.406G>C	c.(406-408)Gat>Cat	p.D136H	CRISP1_ENST00000536021.1_Missense_Mutation_p.D136H|CRISP1_ENST00000355791.2_Missense_Mutation_p.D136H|CRISP1_ENST00000507853.1_Missense_Mutation_p.D136H|CRISP1_ENST00000505118.1_Missense_Mutation_p.D136H|CRISP1_ENST00000329411.5_Missense_Mutation_p.D136H	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	136					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTTATGTCATCATCCGTTGTT	0.398000													6	68					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38038627	38038627	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr3:38038627G>A	ENST00000283713.6	+	6	776	c.510G>A	c.(508-510)aaG>aaA	p.K170K	VILL_ENST00000383759.2_Silent_p.K170K|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	170					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCTAGGCAAGATGATGATTC	0.557000											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	90					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47282064	47282064	+	Silent	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr11:47282064C>T	ENST00000467728.1	+	3	1575	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	NR1H3_ENST00000395397.3_Silent_p.L68L|NR1H3_ENST00000407404.1_Silent_p.L113L|NR1H3_ENST00000405576.1_Silent_p.L68L|NR1H3_ENST00000481889.2_Silent_p.L68L|NR1H3_ENST00000441012.2_Silent_p.L113L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Silent_p.L113L|NR1H3_ENST00000527949.1_Silent_p.L22L			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	113					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CTACAATGTTCTGAGCTGCGA	0.602000													13	65					0	0	1	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839983	27839983	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:27839983C>G	ENST00000328488.2	-	1	116	c.111G>C	c.(109-111)aaG>aaC	p.K37N		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGTGGGGCTTCTTGACGCCAC	0.672000													8	78					0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	207012361	207012361	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr2:207012361C>T	ENST00000233190.6	-	7	711	c.445G>A	c.(445-447)Gat>Aat	p.D149N	NDUFS1_ENST00000455934.2_Missense_Mutation_p.D163N|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D38N|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D92N|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D113N|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D33N|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D149N	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CGGCTCCTATCATTTCCAAAC	0.398000													4	44					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078989	170078989	+	Missense_Mutation	SNP	A	A	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr3:170078989A>T	ENST00000458537.3	+	1	1579	c.870A>T	c.(868-870)caA>caT	p.Q290H	SKIL_ENST00000413427.2_Missense_Mutation_p.Q290H|SKIL_ENST00000426052.2_Missense_Mutation_p.Q270H|SKIL_ENST00000259119.4_Missense_Mutation_p.Q290H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	290					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CGTGTATTCAATGTCTGGAGT	0.463000													9	103					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171236758	171236758	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:171236758C>T	ENST00000354841.4	+	2	340	c.209C>T	c.(208-210)tCa>tTa	p.S70L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.S70L|FMO1_ENST00000402921.2_Intron	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	70					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTTGTTACTCAGACTTTCCA	0.418000													12	77					0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132597025	132597025	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr9:132597025C>G	ENST00000372447.3	-	2	157	c.104G>C	c.(103-105)aGa>aCa	p.R35T		NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	35										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CTGTACCTCTCTGGTCTCTTC	0.547000													14	112					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630715	140630715	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr8:140630715G>A	ENST00000520439.1	-	2	974	c.911C>T	c.(910-912)tCg>tTg	p.S304L	KCNK9_ENST00000303015.1_Missense_Mutation_p.S304L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	304						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			ATAGTCCTGCGAGCGGTAGCA	0.632000													14	76					0	0	1	0	0
ATF1	466	broad.mit.edu	37	12	51208091	51208091	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr12:51208091G>A	ENST00000262053.3	+	6	562	c.540G>A	c.(538-540)caG>caA	p.Q180Q	ATF1_ENST00000539132.1_Silent_p.Q45Q	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	180					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						AAACATATCAGATCCGAACTA	0.438000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								9	56					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131866465	131866465	+	Splice_Site	SNP	A	A	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr9:131866465A>G	ENST00000318080.2	-	3	705		c.e3+1		CRAT_ENST00000464290.1_Intron	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase						energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCAGCCACTCACCGGAGCTGA	0.657000													3	10					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88047700	88047700	+	Missense_Mutation	SNP	T	T	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr5:88047700T>C	ENST00000504921.2	-	5	1235	c.563A>G	c.(562-564)cAt>cGt	p.H188R	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514015.1_Missense_Mutation_p.H188R|MEF2C_ENST00000510942.1_Missense_Mutation_p.H188R|MEF2C_ENST00000424173.2_Missense_Mutation_p.H186R|MEF2C_ENST00000506554.1_Missense_Mutation_p.H188R|MEF2C_ENST00000340208.5_Missense_Mutation_p.H206R|MEF2C_ENST00000437473.2_Missense_Mutation_p.H188R|MEF2C_ENST00000539796.1_Missense_Mutation_p.H140R|MEF2C_ENST00000514028.1_Missense_Mutation_p.H188R|MEF2C_ENST00000508569.1_Missense_Mutation_p.H188R			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	188					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGGAGGTCGATGTGTTACACC	0.473000										HNSCC(66;0.2)			25	149					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306876	14306876	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr20:14306876G>C	ENST00000378053.3	-	2	1533	c.1277C>G	c.(1276-1278)tCt>tGt	p.S426C	FLRT3_ENST00000341420.4_Missense_Mutation_p.S426C|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	426	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAGTTTCCAAGAGATATGAAT	0.438000													22	96					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123211873	123211873	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chrX:123211873C>T	ENST00000371160.1	+	27	3030	c.2740C>T	c.(2740-2742)Cag>Tag	p.Q914*	STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q914*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q914*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q914*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q845*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q914*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	914					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGACAAAATTCAGTGTGCTAA	0.313000													19	57					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96320115	96320115	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr9:96320115C>G	ENST00000277165.6	+	14	2685	c.2491C>G	c.(2491-2493)Cag>Gag	p.Q831E	FAM120A_ENST00000333936.5_Missense_Mutation_p.Q859E|FAM120A_ENST00000340893.4_Missense_Mutation_p.Q831E	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	831	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCAGGCTGATCAGGCTGCCAA	0.522000													3	30					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56482606	56482606	+	Missense_Mutation	SNP	A	A	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr12:56482606A>C	ENST00000267101.3	+	9	1503	c.1063A>C	c.(1063-1065)Acc>Ccc	p.T355P	ERBB3_ENST00000415288.2_Missense_Mutation_p.T296P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	355					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.T355A(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGTGAACTGCACCAAGATCCT	0.552000													11	115					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62679581	62679581	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr4:62679581C>T	ENST00000512091.2	+	8	1997	c.1250C>T	c.(1249-1251)tCt>tTt	p.S417F	LPHN3_ENST00000507625.1_Missense_Mutation_p.S485F|LPHN3_ENST00000506700.1_Missense_Mutation_p.S417F|LPHN3_ENST00000509896.1_Missense_Mutation_p.S485F|LPHN3_ENST00000504896.1_Missense_Mutation_p.S417F|LPHN3_ENST00000506746.1_Missense_Mutation_p.S485F|LPHN3_ENST00000545650.1_Missense_Mutation_p.S417F|LPHN3_ENST00000511324.1_Missense_Mutation_p.S485F|LPHN3_ENST00000514157.1_Missense_Mutation_p.S417F|LPHN3_ENST00000508693.1_Missense_Mutation_p.S485F|LPHN3_ENST00000506720.1_Missense_Mutation_p.S485F|LPHN3_ENST00000508946.1_Missense_Mutation_p.S417F|LPHN3_ENST00000514591.1_Missense_Mutation_p.S417F|LPHN3_ENST00000507164.1_Missense_Mutation_p.S485F|LPHN3_ENST00000514996.1_Missense_Mutation_p.S417F			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						caccttgactctgagctagaa	0.383000													4	42					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431315	56431315	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr11:56431315G>C	ENST00000302969.2	+	1	178	c.154G>C	c.(154-156)Gac>Cac	p.D52H		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GATTACAACAGACACTCAGCT	0.473000													26	218					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1481606	1481606	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr17:1481606G>T	ENST00000301335.5	-	12	1450	c.1362C>A	c.(1360-1362)ttC>ttA	p.F454L	SLC43A2_ENST00000412517.3_Missense_Mutation_p.F317L|SLC43A2_ENST00000382147.4_Missense_Mutation_p.F458L|SLC43A2_ENST00000571650.1_Missense_Mutation_p.F458L	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGTGCAGGATGAAGGAGAGGA	0.647000													4	31					0.0215528	0.0220049	1	1	0
INSRR	3645	broad.mit.edu	37	1	156813266	156813266	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:156813266C>T	ENST00000368195.3	-	16	3245	c.2849G>A	c.(2848-2850)aGa>aAa	p.R950K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	950					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATACAGGGTTCTGTTTCTGCA	0.532000													15	108					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77934544	77934544	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr11:77934544G>T	ENST00000361507.4	-	6	1566	c.1481C>A	c.(1480-1482)aCa>aAa	p.T494K	GAB2_ENST00000340149.2_Missense_Mutation_p.T456K	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	494					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGGAAGGGTTGTTGATGGGTA	0.547000													17	116					6.94344e-10	7.98223e-10	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82408748	82408748	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:82408748C>G	ENST00000370728.1	+	8	1138	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	LPHN2_ENST00000370721.1_Missense_Mutation_p.Q169E|LPHN2_ENST00000319517.6_Missense_Mutation_p.Q165E|LPHN2_ENST00000370725.1_Missense_Mutation_p.Q165E|LPHN2_ENST00000370727.1_Missense_Mutation_p.Q165E|LPHN2_ENST00000335786.5_Missense_Mutation_p.Q165E|LPHN2_ENST00000394879.1_Missense_Mutation_p.Q165E|LPHN2_ENST00000370715.1_Missense_Mutation_p.Q165E|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.Q165E|LPHN2_ENST00000370713.1_Missense_Mutation_p.Q165E|LPHN2_ENST00000370730.1_Missense_Mutation_p.Q165E|LPHN2_ENST00000370717.2_Missense_Mutation_p.Q165E|LPHN2_ENST00000359929.3_Missense_Mutation_p.Q165E|LPHN2_ENST00000271029.4_Missense_Mutation_p.Q165E			O95490	LPHN2_HUMAN	latrophilin 2	165	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGACCCTCTTCAGGCTGCAGA	0.418000													13	82					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													6	80					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122341991	122341991	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr7:122341991G>A	ENST00000434824.1	-	1	1030	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	272						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GTTAAAATGCGTACTACATCT	0.423000													6	69					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48807804	48807804	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr2:48807804C>A	ENST00000309835.3	+	1	42	c.32C>A	c.(31-33)aCc>aAc	p.T11N	STON1_ENST00000404752.1_Missense_Mutation_p.T11N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T11N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T11N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T11N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T11N|STON1_ENST00000406226.1_Missense_Mutation_p.T11N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.T11N					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAATGGGTCACCTTTGATGAT	0.383000													8	77					3.09899e-07	3.50738e-07	1	1	0
DCAF12	25853	broad.mit.edu	37	9	34125056	34125056	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr9:34125056G>C	ENST00000361264.4	-	2	639	c.298C>G	c.(298-300)Cat>Gat	p.H100D	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	100						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						ACTTGCCTATGATTCAACCAC	0.488000													8	62					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27685224	27685224	+	Silent	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:27685224C>T	ENST00000374040.3	-	18	2795	c.2535G>A	c.(2533-2535)ggG>ggA	p.G845G	MAP3K6_ENST00000357582.2_Silent_p.G853G|MAP3K6_ENST00000493901.1_Silent_p.G853G			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	853	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGTGGGCTCCCGAGCTCGT	0.627000													15	43					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20926299	20926299	+	Splice_Site	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr9:20926299G>A	ENST00000380249.1	+	28	3325		c.e28-1		FOCAD_ENST00000338382.6_Splice_Site|FOCAD_ENST00000605086.1_Splice_Site	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin							integral to membrane	binding										TTCATCTGCAGGTTCAACCTA	0.348000													8	49					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277856	135277856	+	Missense_Mutation	SNP	T	T	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr9:135277856T>C	ENST00000334270.2	-	2	392	c.353A>G	c.(352-354)cAt>cGt	p.H118R		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	118	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTTTCTAAAATGCTTTGGTGT	0.363000													27	151					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995487	61995487	+	Missense_Mutation	SNP	A	A	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr17:61995487A>G	ENST00000323322.5	-	3	223	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	GH1_ENST00000342364.4_Intron|GH1_ENST00000458650.2_Intron|GH1_ENST00000351388.4_Intron|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	61					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TTTGGGATATAGGCTTCTTCC	0.522000													4	189					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52258158	52258158	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:52258158C>G	ENST00000299601.5	-	2	662	c.602G>C	c.(601-603)aGa>aCa	p.R201T	LEO1_ENST00000315141.5_Missense_Mutation_p.R201T	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	201	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TAGCTGTTGTCTCTCATCATC	0.428000													31	241					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89857867	89857867	+	Missense_Mutation	SNP	G	G	A	rs148473140		TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr16:89857867G>A	ENST00000389301.3	-	14	1333	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	FANCA_ENST00000568369.1_Missense_Mutation_p.R435C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	435			R -> C (in FA).		DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCTGCCTGGCGCACAACCAGG	0.557000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	35					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48248865	48248865	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr19:48248865G>A	ENST00000246802.5	+	1	87	c.49G>A	c.(49-51)Gat>Aat	p.D17N	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	17						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CTCGAAAAGCGATGCCGATTC	0.642000													37	150					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375060	8375060	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr12:8375060G>A	ENST00000538603.1	-	7	1311	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM90A1_ENST00000307435.6_Silent_p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	251							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662000													6	54					0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39996960	39996960	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr2:39996960C>G	ENST00000505747.1	-	3	589	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.E158Q|THUMPD2_ENST00000454352.2_Missense_Mutation_p.E158Q	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	188	THUMP.						methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				TTCTGAAATTCTTCTTCTTGA	0.368000													5	54					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527907	43527907	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:43527907G>A	ENST00000220420.5	-	10	1481	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	TGM5_ENST00000349114.4_Missense_Mutation_p.R410W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	492					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGCAGGCTCCGAGGGCTGTCC	0.562000													5	35					0	0	1	0	0
LCOR	84458	broad.mit.edu	37	10	98715433	98715433	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr10:98715433G>A	ENST00000540664.1	+	8	1599	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Silent_p.E352E|LCOR_ENST00000371097.4_Silent_p.E352E|LCOR_ENST00000356016.3_Silent_p.E352E	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		ACAACAGTGAGATACTGGAGG	0.478000													6	30					0	0	1	0	0
AP3S2	10239	broad.mit.edu	37	15	90432325	90432325	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:90432325G>A	ENST00000336418.4	-	2	509	c.117C>T	c.(115-117)gtC>gtT	p.V39V	C15orf38-AP3S2_ENST00000398333.3_Silent_p.V240V|C15orf38-AP3S2_ENST00000560224.1_5'UTR|AP3S2_ENST00000560940.1_Silent_p.V39V|AP3S2_ENST00000558011.1_Silent_p.V39V	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit											NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CCCGCTTGAGGACTAGATGGA	0.423000													6	61					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4794444	4794444	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr12:4794444G>A	ENST00000266544.5	+	10	936	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	RP11-234B24.6_ENST00000544741.2_Missense_Mutation_p.E65K|NDUFA9_ENST00000540688.1_Missense_Mutation_p.E65K	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	306					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	AAGAGTCTTTGAAATAAGCCC	0.463000													10	49					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	59829976	59829976	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr20:59829976G>T	ENST00000360469.5	+	2	240	c.152G>T	c.(151-153)gGg>gTg	p.G51V		NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	51					adherens junction organization|cell junction assembly		calcium ion binding	p.G51E(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATTCTAGAAGGGGAAAAGCTA	0.483000													4	90					0.00909568	0.00941822	1	1	0
PHYHIPL	84457	broad.mit.edu	37	10	60994109	60994109	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr10:60994109C>T	ENST00000373880.4	+	2	416	c.152C>T	c.(151-153)cCt>cTt	p.P51L	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.P25L	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	51	Fibronectin type-III.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GAAGAACTTCCTGTACCACAT	0.348000													5	43					0	0	1	0	0
GCSH	2653	broad.mit.edu	37	16	81116535	81116535	+	Nonsense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr16:81116535G>C	ENST00000315467.3	-	5	582	c.458C>G	c.(457-459)tCa>tGa	p.S153*	RP11-303E16.8_ENST00000564536.1_RNA	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	153						glycine cleavage complex|mitochondrion	aminomethyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	ATCTAGTTCTGAAGGGTTACT	0.328000													16	116					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3656571	3656571	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr16:3656571C>T	ENST00000294008.3	-	3	1304	c.664G>A	c.(664-666)Gag>Aag	p.E222K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	222	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCAAACGCTCGGGGTCTGCT	0.547000								Direct reversal of damage					25	186					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145021137	145021137	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:145021137C>T	ENST00000369359.4	-	2	302	c.264G>A	c.(262-264)atG>atA	p.M88I	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.M88I|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.M17I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.M17I|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.M17I|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.M88I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCTGGGTACCATCTCCCCAT	0.433000			T	PDGFRB	MPD								4	193					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44166790	44166790	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr12:44166790G>A	ENST00000431837.1	+	4	502	c.194G>A	c.(193-195)gGt>gAt	p.G65D	IRAK4_ENST00000448290.2_Missense_Mutation_p.G189D|IRAK4_ENST00000440781.2_Missense_Mutation_p.G65D|IRAK4_ENST00000551736.1_Missense_Mutation_p.G189D	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	189	Death.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TCTGTTGGTGGTAATAAAATG	0.343000													8	49					0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132597449	132597449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr9:132597449C>A	ENST00000372447.3	-	1	105	c.52G>T	c.(52-54)Gag>Tag	p.E18*		NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	18										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TCATCTTCCTCTGACTCCGAG	0.642000													6	74					5.68852e-11	6.59147e-11	1	1	0
KAT2B	8850	broad.mit.edu	37	3	20167532	20167532	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr3:20167532G>A	ENST00000263754.4	+	10	2004	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	517	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GTGGCTGGTTGGCCTACAGAA	0.502000													3	29					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	16					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43008415	43008415	+	Silent	SNP	G	G	A	rs147056081	by1000genomes	TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:43008415G>A	ENST00000535468.1	-	21	4214	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I	CUL7_ENST00000265348.3_Silent_p.I1292I	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1292					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGCAGGGACCGATCTGCTCCA	0.662000													13	76					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37318134	37318134	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr5:37318134C>T	ENST00000231498.3	-	21	2464	c.2261G>A	c.(2260-2262)gGa>gAa	p.G754E	NUP155_ENST00000381843.2_Missense_Mutation_p.G695E|NUP155_ENST00000513532.1_Missense_Mutation_p.G754E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	754					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGGGATTTCCGTTTTCAGG	0.388000													12	196					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17700521	17700521	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr17:17700521C>G	ENST00000353383.1	+	3	4728	c.4259C>G	c.(4258-4260)tCt>tGt	p.S1420C	RAI1_ENST00000261641.6_Missense_Mutation_p.S1420C	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1420						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAACTGTCTTCTACTGACTGT	0.552000													12	109					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96318698	96318698	+	Nonsense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr9:96318698C>G	ENST00000277165.6	+	13	2503	c.2309C>G	c.(2308-2310)tCa>tGa	p.S770*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.S798*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.S770*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	770						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTCAGCTATCAGCTCTCTTC	0.393000													21	111					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196547373	196547373	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr3:196547373C>G	ENST00000327134.3	+	13	1607	c.1285C>G	c.(1285-1287)Ctg>Gtg	p.L429V		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	429	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CATATGGTCTCTGGGTATCAT	0.478000													7	67					0	0	1	0	0
ZNF724P	440519	broad.mit.edu	37	19	23415060	23415060	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr19:23415060G>C	ENST00000418100.1	-	2	156	c.39C>G	c.(37-39)ttC>ttG	p.F13L	ZNF724P_ENST00000597037.1_Missense_Mutation_p.F13L																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						CCTCCACAGAGAATTCTATGG	0.413000													28	152					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34097786	34097786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr11:34097786C>T	ENST00000341394.4	+	5	559	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.Q43*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.Q124*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.Q124*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.Q124*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	124					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TTTGCAGATTCAGAAAACAAT	0.323000													10	48					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368615	27368615	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:27368615C>G	ENST00000244576.4	+	3	1011	c.466C>G	c.(466-468)Caa>Gaa	p.Q156E		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q156E(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TATTGAACATCAAAGAACTCA	0.403000													11	86					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816599	29816599	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr16:29816599C>T	ENST00000561482.1	+	14	2399	c.1762C>T	c.(1762-1764)Ctc>Ttc	p.L588F	KIF22_ENST00000569382.2_Missense_Mutation_p.L602F|KIF22_ENST00000160827.4_Missense_Mutation_p.L656F|KIF22_ENST00000400751.5_Missense_Mutation_p.L588F	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	656					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CATCCTGGGTCTCGCCGCCGG	0.602000													17	156					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168658	50168658	+	Silent	SNP	C	C	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:50168658C>A	ENST00000284509.6	-	25	2985	c.2844G>T	c.(2842-2844)ctG>ctT	p.L948L	ATP8B4_ENST00000559829.1_Silent_p.L948L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	948					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTTAAAAAGCAGATTCAGCT	0.438000													3	58					0.150653	0.151692	1	1	0
N6AMT2	221143	broad.mit.edu	37	13	21306021	21306021	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr13:21306021G>T	ENST00000382758.1	-	4	514	c.467C>A	c.(466-468)aCc>aAc	p.T156N	N6AMT2_ENST00000382754.4_Missense_Mutation_p.T156N			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	156							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GTACTTGACGGTTTCCGATGT	0.463000													10	87					7.48243e-07	8.3392e-07	1	1	0
MROH5	389690	broad.mit.edu	37	8	142451330	142451330	+	RNA	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr8:142451330C>T	ENST00000430863.1	-	0	3071					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCGCTGGGATCTGCCTGCAGT	0.662000													3	8					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27685334	27685334	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:27685334C>T	ENST00000374040.3	-	18	2685	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	MAP3K6_ENST00000357582.2_Missense_Mutation_p.E817K|MAP3K6_ENST00000493901.1_Missense_Mutation_p.E817K			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	817	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCAATGATTTCTGGGGCCATA	0.572000													9	60					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34163221	34163221	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr17:34163221C>G	ENST00000588240.1	+	10	874	c.759C>G	c.(757-759)ttC>ttG	p.F253L	TAF15_ENST00000592237.1_Missense_Mutation_p.F162L|TAF15_ENST00000311979.3_Missense_Mutation_p.F250L	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	253	RRM.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTGGGGAGTTCTTTAAACAAA	0.318000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								6	37					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151864287	151864287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr7:151864287C>A	ENST00000355193.2	-	42	9912	c.9694G>T	c.(9694-9696)Gaa>Taa	p.E3232*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.E3232*					lysine (K)-specific methyltransferase 2C																		TTGAGTTGTTCTGCATCTTCC	0.393000													10	105					0.0135373	0.0139186	1	1	0
DLGAP3	58512	broad.mit.edu	37	1	35370344	35370344	+	Missense_Mutation	SNP	G	G	A	rs139478899	byFrequency	TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:35370344G>A	ENST00000373347.1	-	3	909	c.641C>T	c.(640-642)cCg>cTg	p.P214L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P214L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	214					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCCAGAGCCCGGGCCGGGGTA	0.652000													5	63					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290979	141290979	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chrX:141290979G>A	ENST00000247452.3	-	3	1142	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	265	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCATAGACGAAGTGCTCCC	0.507000										HNSCC(46;0.14)			6	75					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532556	190532556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr2:190532556C>T	ENST00000260952.4	+	5	1944	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	ASNSD1_ENST00000607062.1_Nonsense_Mutation_p.Q30*	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	511	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTCCGCTTTCAGTCGCATGG	0.408000													11	64					0	0	1	0	0
SNX22	79856	broad.mit.edu	37	15	64446697	64446697	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:64446697C>T	ENST00000325881.4	+	7	631	c.572C>T	c.(571-573)cCg>cTg	p.P191L		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	191				P -> L (in Ref. 2; BAB14776).	cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						CCTCTGCCACCGATGCCCTGA	0.572000													8	133					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533552	533552	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr11:533552C>A	ENST00000417302.1	-	4	538	c.351G>T	c.(349-351)aaG>aaT	p.K117N	HRAS_ENST00000311189.7_Missense_Mutation_p.K117N|HRAS_ENST00000397596.2_Missense_Mutation_p.K117N|HRAS_ENST00000397594.1_Missense_Mutation_p.K117N|HRAS_ENST00000451590.1_Missense_Mutation_p.K117N	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	117			K -> R (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.K117N(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCAGGTCACACTTGTTCCCCA	0.632000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			10	140					1.33987e-11	1.56497e-11	1	1	0
OR14J1	442191	broad.mit.edu	37	6	29275369	29275369	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:29275369G>C	ENST00000377160.2	+	1	967	c.903G>C	c.(901-903)aaG>aaC	p.K301N		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CACTGAGGAAGATGCTGTCAA	0.388000													16	102					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553664	106553664	+	Silent	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:106553664C>T	ENST00000369096.4	+	5	1863	c.1629C>T	c.(1627-1629)agC>agT	p.S543S	PRDM1_ENST00000369091.2_Silent_p.S507S|PRDM1_ENST00000369089.3_Silent_p.S409S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	543					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCCCAGCAGCGACGAAGCCA	0.562000			"""D, N, Mis, F, S"""		DLBCL								4	56					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39291471	39291471	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr4:39291471G>C	ENST00000381897.1	-	24	3493	c.3360C>G	c.(3358-3360)atC>atG	p.I1120M	RFC1_ENST00000349703.2_Missense_Mutation_p.I1119M	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1120					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATACTACCTTGATCATGGCAT	0.393000													7	102					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105834449	105834449	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr14:105834449G>A	ENST00000447393.1	+	6	800	c.625G>A	c.(625-627)Gag>Aag	p.E209K	PACS2_ENST00000325438.8_Missense_Mutation_p.E209K|PACS2_ENST00000458164.2_Missense_Mutation_p.E209K|PACS2_ENST00000547217.1_Missense_Mutation_p.E179K|PACS2_ENST00000430725.2_Missense_Mutation_p.E142K	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	209					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CTTCTCCTCCGAGCAGGAGGC	0.652000													4	24					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30721183	30721183	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr16:30721183C>G	ENST00000262518.4	+	8	1253	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q290E|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q290E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	290					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGGGACTTTCAACCCCAAGA	0.507000													4	32					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52086968	52086968	+	Silent	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr10:52086968C>T	ENST00000361781.2	-	8	1697	c.738G>A	c.(736-738)ccG>ccA	p.P246P	SGMS1_ENST00000429490.1_Silent_p.P77P	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	252					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGTTTACCTTCGGAGAACAGT	0.423000													7	55					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327897	16327897	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:16327897C>A	ENST00000244769.4	-	8	1581	c.645G>T	c.(643-645)caG>caT	p.Q215H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q215H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	215	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.Q215H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.667000													3	9					0.004672	0.00490728	1	1	0
BDKRB2	624	broad.mit.edu	37	14	96707559	96707559	+	Silent	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr14:96707559C>T	ENST00000542454.2	+	3	3901	c.813C>T	c.(811-813)ctC>ctT	p.L271L	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.L298L|BDKRB2_ENST00000306005.3_Silent_p.L298L|BDKRB2_ENST00000539359.1_Silent_p.L271L			P30411	BKRB2_HUMAN	bradykinin receptor B2	298					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TGCATCGCCTCGGCATCCTCT	0.577000													3	36					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43162084	43162084	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr21:43162084C>A	ENST00000352483.2	-	9	1477	c.1413G>T	c.(1411-1413)atG>atT	p.M471I	RIPK4_ENST00000544709.1_Missense_Mutation_p.M360I|RIPK4_ENST00000332512.3_Missense_Mutation_p.M423I|RIPK4_ENST00000542057.1_Missense_Mutation_p.M360I			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	423						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCAGGATCTTCATCAGTTTGC	0.627000													23	198					3.01185e-09	3.43539e-09	1	1	0
OR14J1	442191	broad.mit.edu	37	6	29275223	29275223	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:29275223G>T	ENST00000377160.2	+	1	821	c.757G>T	c.(757-759)Gca>Tca	p.A253S		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCTTTCAGCTGCAGGCTTTGA	0.488000													4	169					0.00909568	0.00941822	1	1	0
ABCC3	8714	broad.mit.edu	37	17	48762232	48762232	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr17:48762232C>G	ENST00000285238.8	+	29	4356	c.4276C>G	c.(4276-4278)Ctc>Gtc	p.L1426V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1426	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CGGGGAGAATCTCAGGTAAAC	0.597000													7	49					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66777482	66777482	+	Missense_Mutation	SNP	C	C	T	rs144080051	byFrequency	TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:66777482C>T	ENST00000307102.5	+	7	1379	c.848C>T	c.(847-849)gCg>gTg	p.A283V	MAP2K1_ENST00000566326.1_Missense_Mutation_p.A107V	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	283	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GAAGGAGATGCGGCTGAGACC	0.617000													4	61					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707010	96707010	+	Silent	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr14:96707010C>T	ENST00000542454.2	+	3	3352	c.264C>T	c.(262-264)atC>atT	p.I88I	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.I115I|BDKRB2_ENST00000306005.3_Silent_p.I115I|BDKRB2_ENST00000539359.1_Silent_p.I88I			P30411	BKRB2_HUMAN	bradykinin receptor B2	115					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCTGGGCCATCACCATCTCCA	0.587000													34	141					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35510353	35510353	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr19:35510353C>T	ENST00000599564.1	+	14	1723	c.1652C>T	c.(1651-1653)aCg>aTg	p.T551M	GRAMD1A_ENST00000504615.2_Missense_Mutation_p.T230M|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T457M|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T464M			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	464						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGGTGCTGACGCAGGGCATC	0.687000													6	140					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104205089	104205089	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr14:104205089C>T	ENST00000202556.9	-	14	3073	c.2791G>A	c.(2791-2793)Gcc>Acc	p.A931T	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.A350T	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	931					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGGTGGCCGGCGCAGACGGCG	0.607000													20	103					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81188330	81188330	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:81188330C>G	ENST00000394685.3	+	12	1759	c.1340C>G	c.(1339-1341)tCc>tGc	p.S447C	KIAA1199_ENST00000356249.5_Missense_Mutation_p.S447C|KIAA1199_ENST00000220244.3_Missense_Mutation_p.S447C			Q8WUJ3	K1199_HUMAN	KIAA1199	447										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTGATTACTCCATGTACCAG	0.493000													8	70					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97256207	97256207	+	Silent	SNP	C	C	A	rs146707087	byFrequency	TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr8:97256207C>A	ENST00000523821.1	-	7	1118	c.999G>T	c.(997-999)acG>acT	p.T333T	MTERFD1_ENST00000522822.1_Silent_p.T212T|MTERFD1_ENST00000287025.3_Silent_p.T333T|MTERFD1_ENST00000524341.1_Intron			Q96E29	MTER1_HUMAN	MTERF domain containing 1	333					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CAAAATCAAACGTCTCGGTAA	0.398000													7	47					0.000274275	0.000294442	1	1	0
CUX2	23316	broad.mit.edu	37	12	111785412	111785412	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr12:111785412G>A	ENST00000261726.6	+	22	3898	c.3744G>A	c.(3742-3744)ccG>ccA	p.P1248P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1248						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAATCCTACCGCCAGGCCACT	0.657000													11	72					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574438	28574438	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr8:28574438C>T	ENST00000220562.4	+	3	1764	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	288						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ACAGAACCTTCTCTATAACGT	0.522000													4	46					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701151	17701151	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr17:17701151C>G	ENST00000353383.1	+	3	5358	c.4889C>G	c.(4888-4890)tCt>tGt	p.S1630C	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1630	Ser-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTtcctcctctgcctcctct	0.647000													10	77					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4011181	4011181	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr7:4011181G>T	ENST00000404826.2	+	12	1937	c.1798G>T	c.(1798-1800)Gac>Tac	p.D600Y	SDK1_ENST00000389531.3_Missense_Mutation_p.D600Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	600	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCCACACATGACCCCCGGGT	0.517000													4	22					1	1	1	1	0
MDN1	23195	broad.mit.edu	37	6	90432691	90432691	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:90432691C>T	ENST00000369393.3	-	40	6065	c.5950G>A	c.(5950-5952)Gaa>Aaa	p.E1984K	MDN1_ENST00000428876.1_Missense_Mutation_p.E1984K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1984					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGTCCTCTTCGGTTCTCATT	0.433000													23	151					0	0	1	0	0
DNAJC8	22826	broad.mit.edu	37	1	28559472	28559472	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:28559472C>A	ENST00000263697.4	-	1	64	c.38G>T	c.(37-39)gGa>gTa	p.G13V	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	13					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCTGCCTCCGCCGCCTGA	0.622000													6	49					8.12818e-05	8.79048e-05	1	1	0
ACCSL	390110	broad.mit.edu	37	11	44079972	44079972	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr11:44079972G>A	ENST00000378832.1	+	12	1489	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	478							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTTCACAACCGCAGCTCTGGC	0.517000													12	97					0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207039230	207039230	+	Silent	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:207039230C>G	ENST00000367098.1	+	2	396	c.33C>G	c.(31-33)ctC>ctG	p.L11L	IL20_ENST00000391930.2_Silent_p.L11L|IL20_ENST00000367096.3_Silent_p.L11L			Q9NYY1	IL20_HUMAN	interleukin 20	11					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TCAGCCTTCTCTCTGCTGCGT	0.458000													15	71					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48512857	48512857	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr4:48512857C>T	ENST00000537810.1	-	58	8894	c.8290G>A	c.(8290-8292)Gaa>Aaa	p.E2764K	FRYL_ENST00000507873.2_Missense_Mutation_p.E160K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2764K|FRYL_ENST00000503238.1_Missense_Mutation_p.E2764K|FRYL_ENST00000264319.7_Missense_Mutation_p.E160K			O94915	FRYL_HUMAN	FRY-like	2764					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTACTGTTTCAGCATCCACA	0.348000													19	98					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	102					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1842957	1842957	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr2:1842957G>A	ENST00000399161.2	-	21	3791	c.3044C>T	c.(3043-3045)tCa>tTa	p.S1015L	MYT1L_ENST00000428368.2_Missense_Mutation_p.S1013L|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_Missense_Mutation_p.S11L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1015					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACGTGGCCTGAGCCGTCGCA	0.662000													5	35					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701791	103701791	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr13:103701791C>T	ENST00000245312.3	-	5	1363	c.767G>A	c.(766-768)cGa>cAa	p.R256Q		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	256					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGCAACCGTTCGGCACCTAAA	0.393000													5	42					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26012975	26012975	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:26012975G>A	ENST00000374332.4	+	2	915	c.585G>A	c.(583-585)ggG>ggA	p.G195G	MAN1C1_ENST00000263979.3_Silent_p.G15G	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	195					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGCAATGGGGAAAAACGAAC	0.498000													13	114					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22711467	22711467	+	RNA	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:22711467G>A	ENST00000314246.8	-	0	737																											AGAATGTTTCGTGTGGTACAG	0.473000													12	22					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555646	35555646	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr9:35555646G>C	ENST00000455600.1	+	3	3173	c.2604G>C	c.(2602-2604)gaG>gaC	p.E868D		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	868						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCCGAGCAGAGAGCCTGGCCC	0.627000													8	45					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895642	77895642	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr18:77895642C>G	ENST00000262198.4	+	4	2801	c.2346C>G	c.(2344-2346)atC>atG	p.I782M		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	782					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCCATGATATCAAAGGTCTTT	0.463000													17	98					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52258567	52258567	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:52258567C>T	ENST00000299601.5	-	2	253	c.193G>A	c.(193-195)Gac>Aac	p.D65N	LEO1_ENST00000315141.5_Missense_Mutation_p.D65N	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	65	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCCTCACTGTCATCTCCAAAC	0.448000													19	175					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151949177	151949177	+	Splice_Site	SNP	T	T	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr7:151949177T>C	ENST00000355193.2	-	11	1688		c.e11-2		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		TGAACCCACCTGCAGTGATAA	0.363000													12	96					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486853	128486853	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr7:128486853G>C	ENST00000325888.8	+	24	4443	c.4182G>C	c.(4180-4182)aaG>aaC	p.K1394N	FLNC_ENST00000346177.6_Missense_Mutation_p.K1394N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1394					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGAAGCCAAGATGTCCTGCA	0.592000													5	39					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161270	43161270	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr21:43161270C>T	ENST00000352483.2	-	9	2291	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	RIPK4_ENST00000544709.1_Missense_Mutation_p.D632N|RIPK4_ENST00000332512.3_Missense_Mutation_p.D695N|RIPK4_ENST00000542057.1_Missense_Mutation_p.D632N|AP001615.9_ENST00000423276.1_RNA			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	695						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCACATCGGCCTTCTCC	0.667000													13	95					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956468	16956468	+	RNA	SNP	A	A	T	rs1762951	by1000genomes	TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:16956468A>T	ENST00000412962.1	-	0	294																											caattttttaaatttttagta	0.567000													4	14					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99059453	99059453	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr12:99059453G>A	ENST00000357310.1	+	8	1655	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	APAF1_ENST00000547045.1_Missense_Mutation_p.D360N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.D349N|APAF1_ENST00000551964.1_Missense_Mutation_p.D360N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.D360N|APAF1_ENST00000550527.1_Missense_Mutation_p.D349N|APAF1_ENST00000549007.1_Missense_Mutation_p.D360N	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	360	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTCGTCTTATGATTATGAGGC	0.383000													7	59					0	0	1	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764320	22764320	+	RNA	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr22:22764320C>T	ENST00000390299.2	+	0	113																											TGGGCCCAGTCTGTGCTGACG	0.592000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	173					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35466227	35466227	+	Silent	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:35466227G>A	ENST00000229771.6	-	15	1585	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	TULP1_ENST00000322263.4_Silent_p.I449I	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	502					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						ACTGCAGCACGATATAGTCGG	0.657000													4	34					0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52681320	52681320	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chrX:52681320G>A	ENST00000298181.5	-	4	420	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.R88S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CCTTGGTTACGGTCATTATCA	0.502000													5	64					0	0	1	0	0
LCOR	84458	broad.mit.edu	37	10	98715440	98715440	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr10:98715440G>T	ENST00000540664.1	+	8	1606	c.1063G>T	c.(1063-1065)Gag>Tag	p.E355*	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Nonsense_Mutation_p.E355*|LCOR_ENST00000371097.4_Nonsense_Mutation_p.E355*|LCOR_ENST00000356016.3_Nonsense_Mutation_p.E355*	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TGAGATACTGGAGGAAGCAAT	0.468000													6	31					0.00116845	0.00123618	1	1	0
MDN1	23195	broad.mit.edu	37	6	90438806	90438806	+	Silent	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:90438806G>T	ENST00000369393.3	-	36	5308	c.5193C>A	c.(5191-5193)acC>acA	p.T1731T	MDN1_ENST00000428876.1_Silent_p.T1731T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1731					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATAGCAGTGGTCCCTGCAC	0.468000													4	43					0.150653	0.151692	1	1	0
SDK1	221935	broad.mit.edu	37	7	4011127	4011127	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr7:4011127G>A	ENST00000404826.2	+	12	1883	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	SDK1_ENST00000389531.3_Missense_Mutation_p.D582N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	582	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCTCCTGAGGACCACGTGGT	0.532000													4	24					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434011	72434011	+	Silent	SNP	C	C	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chrX:72434011C>T	ENST00000373517.3	-	1	673	c.318G>A	c.(316-318)gtG>gtA	p.V106V	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	106					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ACTTAACTTTCACAGGTAGAC	0.403000													16	43					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48248932	48248932	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr19:48248932G>A	ENST00000246802.5	+	1	154	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	39						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CGGCGGCGGCGAGGCCCAAGA	0.667000													18	66					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108535942	108535942	+	Missense_Mutation	SNP	A	A	G			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr11:108535942A>G	ENST00000526794.1	+	1	94	c.62A>G	c.(61-63)aAt>aGt	p.N21S	DDX10_ENST00000322536.3_Missense_Mutation_p.N21S			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	21							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CGGAGCTTCAATCGCTGGAAG	0.587000			T	NUP98	AML*								7	27					0	0	1	0	0
LCOR	84458	broad.mit.edu	37	10	98715605	98715605	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr10:98715605G>A	ENST00000371097.4	+	8	1774	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.D410N|LCOR_ENST00000540664.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.D410N					ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GGAGGGGCCAGATGTTTCTGT	0.428000													7	33					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154542033	154542033	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:154542033G>A	ENST00000368476.3	+	2	424	c.160G>A	c.(160-162)Gag>Aag	p.E54K		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	54					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CAATGGCTCTGAGCTGGTGAC	0.597000													3	33					0	0	1	0	0
PEX7	5191	broad.mit.edu	37	6	137147593	137147593	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:137147593G>C	ENST00000541292.1	+	3	411	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	PEX7_ENST00000367756.4_Missense_Mutation_p.E109Q|PEX7_ENST00000318471.4_Missense_Mutation_p.E109Q			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	109					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		AGTCTATAAAGAACACGCTCA	0.483000													7	46					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48244458	48244458	+	Silent	SNP	G	G	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr19:48244458G>T	ENST00000263277.3	+	6	1652	c.1401G>T	c.(1399-1401)ctG>ctT	p.L467L	EHD2_ENST00000538399.1_Silent_p.L331L|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	467	EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACGGCAAGCTGAGCGGCTCCA	0.637000													15	65					0.000422831	0.000450609	1	1	0
GRHL3	57822	broad.mit.edu	37	1	24657946	24657947	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:24657946_24657947delCC	ENST00000361548.4	+	2	278_279	c.48_49delCC	c.(46-51)gacccafs	p.P17fs	GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000350501.5_Frame_Shift_Del_p.P17fs|GRHL3_ENST00000236255.4_Frame_Shift_Del_p.P22fs|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000530984.1_3'UTR	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	17					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TAAAGAACGACCCAGTCAACTT	0.505													7	88	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27101524	27101524	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr1:27101524delC	ENST00000324856.7	+	18	5177	c.4806delC	c.(4804-4806)agcfs	p.S1602fs	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1385fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1219fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1602					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCTCCTAGCAAGTCTCCAT	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	88	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74229099	74229100	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr6:74229099_74229100insT	ENST00000316292.9	-	2	1275_1276	c.284_285insA	c.(283-285)cacfs	p.H95fs	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000331523.2_Frame_Shift_Ins_p.H95fs|EEF1A1_ENST00000309268.6_Frame_Shift_Ins_p.H95fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	95						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TAAAGTCTCTGTGTCCTGGGGC	0.406											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	142	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr7:114271580_114271582delCAG	ENST00000393500.3	+	12	1192		c.e12-1		FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													3	6	---	---	---	---					
ING1	3621	broad.mit.edu	37	13	111372030	111372030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr13:111372030delG	ENST00000375774.3	+	2	1482	c.1020delG	c.(1018-1020)gagfs	p.E340fs	ING1_ENST00000375775.3_Frame_Shift_Del_p.E128fs|ING1_ENST00000338450.7_Frame_Shift_Del_p.E153fs|ING1_ENST00000333219.7_Frame_Shift_Del_p.E197fs	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	340					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CGGAGCGAGAGGCGTCCCCTG	0.627													12	50	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													2	4	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54841781	54841782	+	RNA	DEL	AG	AG	-			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr19:54841781_54841782delAG	ENST00000507363.1	-	0	430																											TCCTGAGGGCAGAGCCTGGGGC	0.584													2	4	---	---	---	---					
CYP2D7	1564	broad.mit.edu	37	22	42538614	42538615	+	RNA	DEL	AG	AG	-			TCGA-YC-A8S6-01A-31D-A38G-08	TCGA-YC-A8S6-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a485ab00-ac35-4bbb-971c-88c716e797d0	65dbd424-ff4a-4681-bf17-7390bd054758	g.chr22:42538614_42538615delAG	ENST00000433992.1	-	0	642_643				CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						GCTTTGTCCAAGAGACCGTTGG	0.658													2	4	---	---	---	---